Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

A total of 10 restriction site polymorphisms have been identified at the human phenylalanine hydroxylase locus using a full-length human phenylalanine hydroxylase cDNA clone as a hybridization probe to analyze human genomic DNA. These polymorphic patterns segregate in a Mendelian fashion and concordantly with the disease state in various PKU kindreds. The frequencies of the restriction site polymorphisms at the human phenylalanine hydroxylase locus among Caucasians are such that the observed heterozygosity in the population is 87.5%. Thus, most families with a history of classical phenylketonuria can take advantage of the genetic analysis for prenatal diagnosis and carrier detection of the hereditary disorder.     

Structure effects of double D-amino acid replacements: a nuclear magnetic resonance and circular dichroism study using amphipathic model helices

D-Amino acid replacements and the determination of resulting structural changes are a useful tool to recognize amphipathic helices in biologically active peptides such as neuropeptide Y and corticotropin-releasing factor. In this paper the secondary structures of one amphipathic alpha-helical peptide and its double D-amino acid analog have been determined by means of 1H NMR and CD spectroscopies under equivalent conditions. The chemical shifts (NH and C alpha H) and the analysis of nuclear Overhauser effects show a split of the continuous helix for the all-L peptide into two helices at the position of double D-amino acid replacement. Hydrogen exchange rates correlate with water accessibilities in the hydrophobic/hydrophilic face and confirm the amphipathic helical structure in the all-L peptide as well as in its double D-amino acid analog. A significantly accelerated hydrogen isotope exchange rate is observed for the D-Ala9 backbone proton, implying an increased flexibility at that position. These results show that the incorporation of an adjacent pair of D-amino acids only causes a local change in structure and flexibility, which makes the double D replacement interesting as a tool for specific helix-disturbing modifications to search for helical conformations in biologically active peptides.     

Outcomes of hand surgery. British Society for Surgery of the Hand

The findings are presented of a conference on Outcomes of Hand Surgery organized by the audit committee of British Society for Surgery of the Hand in 1993. Measures of outcome in terms of movement, power, sensibility, pain, activities of daily living, complications and patient satisfaction are considered, and an example of a patient evaluation measure given as an appendix.     

Reprocessing of thermally oxidized aluminum arsenide (AlAs) in epitaxial multilayers without delamination

Annealing or processing of AlAs that has been subjected to a wet thermal oxidation process can result in severe delamination of material at the oxidation front. This paper reports a procedure for preventing this delamination and presents a possible cause for the delamination.     

Radioactivity Measurements on Glazed Ceramic Surfaces

A variety of commonly available household and industrial ceramic items and some specialty glass materials were assayed by alpha pulse counting and ion chamber voltage measurements for radioactivity concentrations. Identification of radionuclides in some of the items was performed by gamma spectroscopy. The samples included tableware, construction tiles and decorative tiles, figurines, and other products with a clay based composition. The concentrations of radioactivity ranged from near background to about four orders of magnitude higher. Almost every nuclide identification test demonstrated some radioactivity content from one or more of the naturally occurring radionuclide series of thorium or uranium. The glazes seemed to contribute most of the activity, although a sample of unglazed pottery greenware showed some activity. Samples of glazing paints and samples of deliberately doped glass from the World War II era were included in the test, as was a section of foam filled poster board. A glass disc with known ²³²Th radioactivity concentration was cast for use as a calibration source. The results from the two assay methods are compared, and a projection of sensitivity from larger electret ion chamber devices is presented.     

Hypermedia Support for Software Development: A Retrospective Assessment

Hypermedia technologies have been available for about a decade. Beginning with Douglas Engelbart, researchers have become interested in applying hypermedia concepts and technologies to software development. This paper assesses this symbiosis between hypermedia and software development as described by research contributions; by our count, more than one hundred articles. To date, no collection of, or guide to, this literature has been published. A number of significant contributions are classified, described, and appraised — providing a guide into what has been a rich but perhaps under-reported research area. Hypermedia has made significant contributions to software development in three primary areas: coping with massive amounts of information associated with software development projects; establishing and maintaining linkages between various types of software engineering documents; and enabling development engineers to record, document, and preserve knowledge about development thoughts, processes and rationale. These contributions may help direct the focus of future research towards building on, combining and assessing the resulting contributions. A research agenda is proposed along these lines.